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A wide spectrum narrows
SOUTHBOROUGH, Mass.—SynapDx, a start-up, early-stage laboratory services company, has obtained an exclusive worldwide license to technology from Children's Hospital Boston for blood-based tests targeted toward the early detection of autism spectrum disorders (ASDs), developmental syndromes affecting one in 110 U.S. births—and four times as many boys as girls.
The financial terms of the deal, announced May 2, were not disclosed, but the commercial value of providing a diagnostic autism test would be substantial, according to medical experts and economists.
The National Institutes of Health report that most parents of autistic children suspect something is wrong by the time the child is 18 months old, and seek help by the time the child is two years old. Yet, the average age of diagnosis is 4.5 years—rather late to begin the kind of intensive therapy needed to ready a child for school.
This is partially because pediatricians tend to console anxious mothers and adopt a wait-and-see approach. A diagnostic test for autism would solve that problem, both SynapDx and the hospital believe.
Today, ASDs are diagnosed using a variety of assessments that combine direct patient observation and medical history. The addition of a clinically meaningful blood test could hasten the diagnostic process and help children at risk for ASDs get access to the right evaluations earlier—and end up with better outcomes as they grow, SynapDx says.
SynapDx's initial focus with the technology licensed from the hospital will be to develop an assay "targeted at specialists who evaluate children with possible developmental concerns, to more effectively differentiate children with autism spectrum disorders from those with other types of developmental disorders," says Theresa Tribble, senior director of clinical market development for SynapDx.
The technology being licensed was developed in collaboration with Dr. Louis Kunkel and Dr. Isaac Kohane at Children's Hospital. Kunkel is the director of the Children's Genomic Program. Kohane is the director of the informatics program at the hospital. Both are listed as scientific collaborators on SynapDx's website, along with Leonard Rappaport, chief of developmental medicine at Children's Hospital and a professor of pediatrics at Harvard Medical School.
Kunkel describes autism as a developmental disorder that most likely involves genes expressed in the brain and probably has both genetic and environmental causes.
"Because many genes expressed in the central nervous system are also expressed in whole blood, we reasoned that we might be able to find signatures of gene expression that would allow us to categorize patients with autism and possibly identify causative genes," Kunkel states. "We can now predict whether a gene expression profile is derived from a blood sample taken from an autistic child or from a control. We are expanding these studies to many more patients and controls in the hopes of developing a diagnostic test for autism."
SynapDx also mentions a recent gene expression project undertaken by Kohane, Kunkel and colleagues. According to the firm, the researchers investigated 400 ASD cases and controls and ultimately identified a signature that has "robust classification accuracy," the firm says on its website. "These data suggest that differential expression of certain genes in blood cells may form the basis for an ASD biomarker."
The Children's Hospital researchers discussed the study in a poster at the American Society of Human Genetics meeting in November, describing a 245-gene prediction model they said could be used to distinguish ASD cases from those with other disorders.
"Our findings suggest that changes in peripheral blood gene expression reflect those found in the ASD brain, as well as implicate the processes of neurodevelopment and immune-signaling in disease," concluded the researchers.
SynapDx last year licensed blood-based autism detection technologies developed by another scientific collaborator, Valerie Hu, a professor of molecular biology at George Washington University. Hu was the first to demonstrate that altered RNA expression levels could be interpreted to distinguish between ASD and normal individuals using RNA samples derived from peripheral blood.
Using lymphoblastoid cell lines established from peripheral blood leukocytes available through the Autism Genetic Resource Exchange, Hu and her colleagues identified gene expression signatures that differentiate between ASD and normal twins, between affected and unaffected sibling pairs and among individuals with different idiopathic ASD diagnoses and unaffected relatives.
SynapDx was founded last year and closed an undisclosed Series A round of venture funding in May 2010 from North Bridge Venture Partners, Bain Capital Ventures and General Catalyst Partners. The company is led by President and CEO Stanley Lapidus, who previously founded next-generation sequencing firm Helicos Biosciences.